rs6892

A systematic review and meta-analysis of 161 published meta-analyses evaluating 344 gene-variant/cancer associations across 99 genes and 18 cancer sites. The authors calculated false-positive report probability (FPRP) values to evaluate the robustness of statistically significant findings (p<0.05). The most noteworthy associations at very low prior probability were GSTM1 null with bladder cancer (OR: 1.5, p=1.9×10-14), NAT2 slow acetylator with bladder cancer (OR: 1.46, p=2.5×10-7), MTHFR C677T with gastric cancer (OR: 1.52, p=4.9×10-8), and GSTM1 null with acute leukemia (OR: 1.20, p=8.6×10-15). Phase II metabolizing enzymes, particularly GSTM1 deletion, showed the most consistent and highly significant associations with cancer risk.

This case-control study of 497 Polish endometrial cancer cases and 1,024 controls examined genetic variation in CYP17 to determine its association with endometrial cancer risk. The researchers genotyped rs743572 and eight other haplotype-tagging SNPs capturing >80% of CYP17 variation. Contrary to previous smaller studies suggesting a 50% decreased risk with the C allele, this study found no significant association (rs743572 per C allele: OR=1.12, 95% CI 0.96-1.30, P=0.15). Meta-analysis of 1,004 cases and 1,907 controls revealed significant heterogeneity (Q test P=0.007) and evidence of publication bias, with no clear association between CYP17 variants and endometrial cancer risk.